Patterns of haplotype combinations involving putatively pathogenic eQTLs and predicted pathogenic coding variants. (A) UpSet plot showing putatively pathogenic eQTLs fine-mapped using various methods, including conditional analysis, CAVIAR, FINEMAP, and PAINTOR. (B) Haplotype diagram illustrating the association between the putatively pathogenic eQTL rs10017322 and predicted pathogenic variants. The G and A alleles of rs10017322 correspond to high and low expression levels of SHROOM3, respectively, in the GTEx database (Supplemental Fig. 3). The A allele modifies the penetrance of the pathogenic L102V and R1936W alleles in healthy Chinese individuals, whereas other variants combined with the G allele are associated with the CFM phenotype in Chinese and European populations. (C) Missense score of identified coding variants in SHROOM3.
